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Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments
المؤلفون المشاركون
Valaperta, Rea
Sansone, Valeria
Lombardi, Fortunata
Verdelli, Chiara
Colombo, Alessio
Valisi, Massimiliano
Brigonzi, Elisa
Costa, Elena
Meola, Giovanni
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-05-09
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
The expansion of the specific trinucleotide sequence, [CTG], is the molecular pathological mechanism responsible for the clinical manifestations of DM1.
Many studies have described different molecular genetic techniques to detect DM1, but as yet there is no data on the analytical performances of techniques used so far in this disease.
We therefore developed and validated a molecular method, “Myotonic Dystrophy SB kit,” to better characterize our DM1 population.
113 patients were examined: 20 DM1-positive, 11 DM1/DM2-negative, and13 DM1-negative/DM2-positive, who had a previous molecular diagnosis, while 69 were new cases.
This assay correctly identified 113/113 patients, and all were confirmed by different homemade assays.
Comparative analysis revealed that the sensitivity and the specificity of the new kit were very high (>99%).
Same results were obtained using several extraction procedures and different concentrations of DNA.
The distribution of pathologic alleles showed a prevalence of the “classical” form, while of the 96 nonexpanded alleles 19 different allelic types were observed.
Cardiac and neuromuscular parameters were used to clinically characterize our patients and support the new genetic analysis.
Our findings suggest that this assay appears to be a very robust and reliable molecular test, showing high reproducibility and giving an unambiguous interpretation of results.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Valaperta, Rea& Sansone, Valeria& Lombardi, Fortunata& Verdelli, Chiara& Colombo, Alessio& Valisi, Massimiliano…[et al.]. 2013. Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments. BioMed Research International،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1005514
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Valaperta, Rea…[et al.]. Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments. BioMed Research International No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-1005514
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Valaperta, Rea& Sansone, Valeria& Lombardi, Fortunata& Verdelli, Chiara& Colombo, Alessio& Valisi, Massimiliano…[et al.]. Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1005514
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1005514
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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